Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2
0.010 Biomarker disease BEFREE In the last few decades CYP11B1 (11-β-hydroxylase) and CYP11B2 (aldosterone synthase), key enzymes in the biosynthesis of cortisol and aldosterone, respectively, have been also investigated as targets for the identification of new potent and selective agents for the treatment of Cushing's syndrome, impaired wound healing and cardiovascular diseases. 30769265 2019
Entrez Id: 50964
Gene Symbol: SOST
SOST
0.010 AlteredExpression disease BEFREE Male 24-week-old C57BL/6 and 18-week-old DBA/1 mice exposed to GC and 12-week-old mice with endogenous hypercortisolism displayed reduced bone formation as indicated by reduced levels of P1NP and increased serum sclerostin levels. 31234141 2019
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.010 Biomarker disease BEFREE Subtle cortisol excess in premenopausal women and reduced DHEA-S in postmenopausal women and men may contribute to BMD reduction in Asians with SH. 30719548 2019
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.010 Biomarker disease BEFREE Subtle cortisol excess in premenopausal women and reduced DHEA-S in postmenopausal women and men may contribute to BMD reduction in Asians with SH. 30719548 2019
Entrez Id: 2230
Gene Symbol: FDX1
FDX1
0.010 Biomarker disease BEFREE Directly after surgery, 84% of the patients with unilat-ADX-PBMAH experienced initial remission of Cushing syndrome (CS). 30844071 2019
Entrez Id: 2346
Gene Symbol: FOLH1
FOLH1
0.010 AlteredExpression disease BEFREE <b>Methods:</b> PSMA protein expression in tissue samples from 50 ACCs, 90 ACAs (including 20 from patients who presented with Cushing's syndrome, 20 aldosterone-producing adenomas and 50 non-functional tumors) and 10 tissues that were metastases from other primary sites was assessed by immunohistochemistry. 31040822 2019
Entrez Id: 23583
Gene Symbol: SMUG1
SMUG1
0.010 Biomarker disease BEFREE We performed 18F-FDG PET/CT scan to assess the SUVmax values in the different adrenal masses including Cushing syndrome, pheochromocytoma, primary hyperaldosteronism and nonfunctional adrenal adenomas. 31137014 2019
Entrez Id: 6770
Gene Symbol: STAR
STAR
0.010 AlteredExpression disease BEFREE D2-40 expression was significantly lower in ACC as compared to adenomas with Cushing syndrome (p < 0.01) and correlated positively with the expression of the steroidogenic acute regulatory protein (StAR) (R<sup>2</sup> = 0.553, p < 0.001). 28695321 2018
Entrez Id: 6559
Gene Symbol: SLC12A3
SLC12A3
0.010 AlteredExpression disease BEFREE Potassium has recently been identified as an important driver of NCC activity, and low serum potassium may also contribute to increased renal sodium reabsorption and hypertension in CS. 29726949 2018
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
0.010 Biomarker disease BEFREE Mitotane/Op'DDD is used in the treatment of adrenocortical carcinoma and for other causes of hypercortisolism. 30222204 2018
Entrez Id: 38
Gene Symbol: ACAT1
ACAT1
0.010 Biomarker disease BEFREE ATR-101, a selective inhibitor of ACAT1 (acyl coenzyme A:cholesterol acyltransferase 1), is a novel small molecule therapeutic currently in clinical development for the treatment of adrenocortical carcinoma, congenital adrenal hyperplasia, and Cushing's syndrome in humans. 29720169 2018
Entrez Id: 7291
Gene Symbol: TWIST1
TWIST1
0.010 AlteredExpression disease BEFREE Hypercortisolism was associated with the downregulation of genes involved in osteoblast function and maturation (ACP5, ALPL, BGLAP, COL1A1, COL1A2, BMP2, RUNX2, TWIST1). 28980049 2018
Entrez Id: 545
Gene Symbol: ATR
ATR
0.010 AlteredExpression disease BEFREE ATR-101 pharmacokinetics and activity were assessed in 10 dogs with naturally-occurring Cushing's syndrome, including 7 dogs with pituitary-dependent disease and 3 dogs with adrenal-dependent disease. 29720169 2018
Entrez Id: 9734
Gene Symbol: HDAC9
HDAC9
0.010 AlteredExpression disease BEFREE We hypothesized that HDAC inhibition (HDACi) decreased transcriptional activity of glucocorticoid receptor (GR), which ameliorates hypertension and hyperglycemia in patients with CS. 28928236 2018
Entrez Id: 5468
Gene Symbol: PPARG
PPARG
0.010 Biomarker disease BEFREE Docking analysis of 1 revealed that it might bind to the ligand binding domain (LBD) of PPARγ in a manner similar to that of the synthetic steroid mifepristone (7), which is used clinically to treat hypercortisolism and was recently reported to be a PPARγ agonist. 30086355 2018
Entrez Id: 5175
Gene Symbol: PECAM1
PECAM1
0.010 AlteredExpression disease BEFREE CD31 expression was found to be significantly higher in ACC as compared to adenomas with Cushing syndrome (p < 0.05). 28695321 2018
Entrez Id: 12
Gene Symbol: SERPINA3
SERPINA3
0.010 AlteredExpression disease BEFREE We also observed increased levels of the human orthologue Serpina3 in the serum of Cushing's syndrome patients compared with healthy controls matched for age and sex (n = 9/group, 2.5-fold; P < 0.01). 29989354 2018
Entrez Id: 54
Gene Symbol: ACP5
ACP5
0.010 AlteredExpression disease BEFREE Hypercortisolism was associated with the downregulation of genes involved in osteoblast function and maturation (ACP5, ALPL, BGLAP, COL1A1, COL1A2, BMP2, RUNX2, TWIST1). 28980049 2018
Entrez Id: 57733
Gene Symbol: GBA3
GBA3
0.010 Biomarker disease BEFREE ACTH = adrenocorticotropic hormone; BIPSS = bilateral inferior petrosal sinus sampling; CBG = corticosteroid-binding globulin; CD = Cushing disease; CRH = corticotropin-releasing hormone; CS = Cushing syndrome; Dex = dexamethasone; DST = dexamethasone suppression test; EAS = ectopic ACTH syndrome; FDA = U.S. Food & Drug Administration; HDDST = high-dose DST; IPS/P = inferior petrosal sinus to peripheral; MRI = magnetic resonance imaging; NET = neuroendocrine tumor; PET = positron emission tomography; UFC = urinary free cortisol. 28614036 2017
Entrez Id: 866
Gene Symbol: SERPINA6
SERPINA6
0.010 Biomarker disease BEFREE ACTH = adrenocorticotropic hormone; BIPSS = bilateral inferior petrosal sinus sampling; CBG = corticosteroid-binding globulin; CD = Cushing disease; CRH = corticotropin-releasing hormone; CS = Cushing syndrome; Dex = dexamethasone; DST = dexamethasone suppression test; EAS = ectopic ACTH syndrome; FDA = U.S. Food & Drug Administration; HDDST = high-dose DST; IPS/P = inferior petrosal sinus to peripheral; MRI = magnetic resonance imaging; NET = neuroendocrine tumor; PET = positron emission tomography; UFC = urinary free cortisol. 28614036 2017
Entrez Id: 57447
Gene Symbol: NDRG2
NDRG2
0.010 AlteredExpression disease BEFREE Clinical factors, such as: age, gender, relapse and diagnoses of Cushing syndrome were of no significance for NDRG2 promoter methylation and mRNA expression levels, as well as secreting or non-secreting PAs and the invasiveness of PAs. 28390436 2017
Entrez Id: 8030
Gene Symbol: CCDC6
CCDC6
0.010 GeneticVariation disease BEFREE We herein first report BCOR gene mutation in Cushing's syndrome secondary to TPC and it may become a promising therapeutic target in the future. 28834902 2017
Entrez Id: 54880
Gene Symbol: BCOR
BCOR
0.010 GeneticVariation disease BEFREE We herein first report BCOR gene mutation in Cushing's syndrome secondary to TPC and it may become a promising therapeutic target in the future. 28834902 2017
Entrez Id: 3664
Gene Symbol: IRF6
IRF6
0.010 Biomarker disease BEFREE Sixty-seven percent had pituitary-dependent CS (PIT-CS), 24% had adrenal-dependent CS (ADR-CS), 6% had CS from an ectopic source (ECT-CS) and 3% were classified as having CS from other causes (OTH-CS). 28377460 2017
Entrez Id: 1071
Gene Symbol: CETP
CETP
0.010 Biomarker disease BEFREE High density lipoprotein (HDL) cholesterol is not decreased in hypercortisolism despite high triglycerides, which may be ascribed to effects on the cholesteryl ester transfer protein (CETP) pathway. 28542805 2017